Varaico: Literature-Extracted Genetic Variants

SPEN

881 papers

RefSeq Summary

This gene encodes a hormone inducible transcriptional repressor. Repression of transcription by this gene product can occur through interactions with other repressors, by the recruitment of proteins i...

Pfam Domains

RRM_1aa 8–75UCSCRNA recognition motif

RRM_1aa 337–407UCSCRNA recognition motif

RRM_1aa 440–507UCSCRNA recognition motif

RRM_1aa 519–583UCSCRNA recognition motif

MINT_MIDaa 2059–2389UCSCMsx2-interacting protein, MID domain

MINT_RIDaa 2400–2639UCSCMsx2-interacting protein, nuclear receptor-interacting domain

Gene Aliases

HGNC Name

spen family transcriptional repressor

HGNC Alias Symbols

KIAA0929; MINT; SHARP; RBM15C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015001.3

p.V1920A

c.5759T>C

Surrounding Variants

1 paper

NM_015001.3

p.P1919H

c.5756C>A

1 paper

NM_015001.3

p.P1919R

c.5756C>G

2 papers

NM_015001.3

p.P1923P

c.5769C>T

1 paper

NM_015001.3

p.R1917C

c.5749C>T

1 paper

NM_015001.3

p.E1925K

c.5773G>A

1 paper

NM_015001.3

p.E1925*

c.5773G>T

1 paper

NM_015001.3

p.H1914R

c.5741A>G

1 paper

NM_015001.3

p.T1910I

c.5729C>T

1 paper

NM_015001.3

p.Y1908*

c.5724T>A

1 paper

NM_015001.3

p.Y1908*

c.5724T>G

1 paper

NM_015001.3

p.Y1908_N1916delFs

c.5724_5746del23

1 paper

NM_015001.3

p.E1935Q

c.5803G>C